Canonical Allele Identifier: CA391381156

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386639A>C (hg19) ; chr15:g.28141493A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141493A>C , CM000677.2:g.28141493A>C	GRCh38
NC_000015.9:g.28386639A>C , CM000677.1:g.28386639A>C	GRCh37
NC_000015.8:g.26060234A>C	NCBI36
NG_016355.1:g.185657T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.11954T>G MANE Select	ENSP00000261609.8:p.Leu3985Arg
ENST00000650509.1:c.3665T>G	ENSP00000496936.1:p.Leu1222Arg
ENST00000261609.11:c.11954T>G	ENSP00000261609.7:p.Leu3985Arg
NM_004667.5:c.11954T>G	NP_004658.3:p.Leu3985Arg
XM_005268276.3:c.11840T>G	XP_005268333.1:p.Leu3947Arg
XM_005268277.3:c.11840T>G	XP_005268334.1:p.Leu3947Arg
XM_006720726.2:c.11939T>G	XP_006720789.1:p.Leu3980Arg
XM_006720727.2:c.11696T>G	XP_006720790.1:p.Leu3899Arg
XM_011522131.1:c.11471T>G	XP_011520433.1:p.Leu3824Arg
XM_011522132.1:c.9470T>G	XP_011520434.1:p.Leu3157Arg
XM_011522133.1:c.8699T>G	XP_011520435.1:p.Leu2900Arg
XM_011522134.1:c.6071T>G	XP_011520436.1:p.Leu2024Arg
XM_005268276.5:c.11840T>G	XP_005268333.1:p.Leu3947Arg
XM_006720726.3:c.11939T>G	XP_006720789.1:p.Leu3980Arg
XM_006720727.3:c.11696T>G	XP_006720790.1:p.Leu3899Arg
XM_017022695.1:c.11840T>G	XP_016878184.1:p.Leu3947Arg
XM_017022696.1:c.11840T>G	XP_016878185.1:p.Leu3947Arg
XM_017022697.1:c.5120T>G	XP_016878186.1:p.Leu1707Arg
XM_017022698.1:c.5120T>G	XP_016878187.1:p.Leu1707Arg
NM_004667.6:c.11954T>G MANE Select	NP_004658.3:p.Leu3985Arg